Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
ACMG/AMP 线粒体 DNA 变异解读标准和指南的规范
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.24107
McCormick, Elizabeth M; Lott, Marie T; Dulik, Matthew C; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda-Alvarez, Daniel E; Singh, Larry N; Stanley, Christine M; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shiping; Procaccio, Vincent; Wallace, Douglas C; Gai, Xiaowu; Falk, Marni J